Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Asp312Asn (p.D312N)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000485403.6,
ENST00000684407.1 )
ERCC2 p.Asp312Asn (p.D312N) ( ENST00000391944.8, ENST00000391945.10, ENST00000485403.6, ENST00000684407.1 ) - Associated Disease
- Squamous cell carcinoma of esophagus
- Source Database
- DisGeNET
- Description
- Our meta-analysis suggested that the ERCC2 Asp312Asn polymorphism might be associated with increased risk of esophageal adenocarcinoma and a protective factor for esophageal squamous cell carcinoma.
- Pubmed
- 24234258
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2013
Drugs